Variant Details

Variant: esv2758273

Internal ID

9633732

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:61147888..61313185	hg38	UCSC Ensembl
Inner	chr11:60915360..61080657	hg19	UCSC Ensembl
Inner	chr11:60671936..60837233	hg18	UCSC Ensembl
Inner	chr11:60671936..60837233	hg17	UCSC Ensembl

Cytoband

11q12.2

Allele length

Assembly	Allele length
hg38	165298
hg19	165298
hg18	165298
hg17	165298

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759831

Supporting Variants

essv8433, essv18294, essv10213, essv10900, essv5277, essv1874, essv14874, essv6904, essv11758, essv14620, essv7269, essv2678, essv24689, essv10085, essv21451, essv6587, essv16814, essv6807, essv22529, essv19085, essv15715, essv14176, essv1396, essv10682, essv12758, essv1098, essv15112, essv9248, essv11139, essv12645, essv7598, essv5525, essv19248, essv18403, essv12287, essv18751, essv19653, essv1276, essv8159, essv11273, essv5053, essv19444, essv23521, essv5110, essv2342, essv5496, essv21122, essv4448, essv8346, essv16953, essv3463, essv2269, essv3855, essv3310, essv14398, essv8233, essv13694, essv4645, essv19593, essv3149, essv17549, essv5718, essv23386, essv17746, essv19791, essv13179, essv6321, essv20323, essv1191, essv15377, essv4678, essv4122, essv21816, essv14363, essv1596, essv2599, essv24770, essv1482, essv478, essv7418, essv7109, essv16345, essv21389, essv1460, essv7762, essv15710, essv13805, essv11431, essv2439, essv292, essv5910, essv21668, essv12963, essv4799, essv16502, essv19182, essv3350, essv24870, essv11685, essv6030, essv22897, essv12848, essv6646, essv4248, essv21206, essv156, essv10465, essv9768, essv8291, essv7041, essv12459, essv4855, essv3100, essv817, essv2039, essv6275, essv2866, essv9134, essv16639, essv2802, essv6951, essv48, essv3968, essv7180, essv7326, essv17253, essv10051, essv1740, essv14440, essv3198, essv4955, essv21969, essv22937, essv14053, essv13414, essv9902, essv2501, essv12238, essv10560, essv3061, essv18065, essv9739, essv7849, essv8617, essv24284, essv3565, essv2198, essv4080, essv13599, essv7712, essv530, essv13095, essv9047, essv16407, essv6387, essv22427, essv5335, essv14963, essv661, essv22304, essv259, essv12415, essv10414, essv22049, essv6124, essv23767, essv17961, essv897, essv1964, essv20232, essv22472, essv13518, essv4416, essv3710, essv21061, essv15522, essv11943, essv8765, essv366, essv4905, essv24392, essv15200

Samples

NA18998, NA18502, NA12717, NA19222, NA11830, NA18621, NA18947, NA11995, NA11829, NA19204, NA18862, NA18861, NA18592, NA18980, NA18855, NA12236, NA18561, NA18507, NA19145, NA18999, NA18603, NA19092, NA18545, NA18504, NA12248, NA18959, NA12865, NA18870, NA18633, NA12750, NA12155, NA07357, NA18969, NA18967, NA18563, NA19127, NA19192, NA18944, NA18940, NA18550, NA19201, NA10835, NA10846, NA18995, NA19119, NA18635, NA18860, NA18558, NA18547, NA19131, NA18960, NA18942, NA18582, NA18571, NA12762, NA19138, NA18964, NA06993, NA19130, NA18949, NA12761, NA18970, NA19238, NA19207, NA19128, NA18966, NA12815, NA18990, NA19239, NA19209, NA18975, NA18973, NA19007, NA18951, NA18605, NA19210, NA12760, NA19120, NA19194, NA12003, NA10831, NA19152, NA18859, NA18515, NA18991, NA18529, NA18516, NA18637, NA18579, NA19103, NA18572, NA18976, NA18948, NA18503, NA11839, NA10838, NA18981, NA18537, NA18573, NA19142, NA19000, NA11840, NA12249, NA18912, NA19154, NA18857, NA18532, NA12264, NA12145, NA19099, NA12707, NA19101, NA18555, NA12144, NA06985, NA19160, NA19132, NA10856, NA18570, NA18858, NA18593, NA18945, NA19012, NA18974, NA18576, NA18608, NA18953, NA19094, NA19003, NA18978, NA18914, NA18632, NA19206, NA18542, NA06991, NA18952, NA18863, NA18540, NA19140, NA18913, NA19240, NA19144, NA18992, NA10861, NA19193, NA12874, NA07348, NA12763, NA07055, NA18594, NA12740, NA18971, NA18987, NA19211, NA18994, NA19093, NA10860, NA18636, NA18500, NA18609, NA19102, NA19116, NA18972, NA18872, NA18552, NA18852, NA18505, NA19129, NA18968, NA18624, NA19139, NA18623, NA07000, NA18522, NA12154, NA18612, NA18622, NA19153, NA18965, NA18577, NA18620, NA18997

Known Genes

DDB1, PGA3, PGA4, PGA5, VPS37C, VWCE

Method

BAC aCGH

Analysis

Array images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).

Platform

Agilent

Comments

Reference

Redon_et_al_2006

Pubmed ID

17122850

Accession Number(s)

esv2758273

Frequency

Sample Size	270
Observed Gain	180
Observed Loss	2
Observed Complex	0
Frequency	n/a